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Case Reports
. 2009 May;6(5):707-10.
doi: 10.1016/j.hrthm.2009.01.037. Epub 2009 Feb 4.

A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death

Hubert Pan  1 , Ashleigh A Richards, Xiaohui Zhu, Jose A Joglar, Helen L Yin, Vidu Garg
Affiliations
Case Reports

A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death

Hubert Pan et al. Heart Rhythm. 2009 May.
No abstract available

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Figures

Figure 1
Figure 1. Novel LMNA mutation (K117fs) segregates with atrial fibrillation, atrioventricular block, and dilated cardiomyopathy
(A) Three generation family had 15 affected members exhibiting autosomal dominant cardiac disease. Square, males; circles, females; slash, deceased. (B) Phenotype of affected family members. Age at presentation or implantation is noted in parentheses. AF, atrial fibrillation; HR, heart rate; AVB, atrioventricular block; PM, pacemaker implantation; *, implantation of cardiac defibrillator; DCM, dilated cardiomyopathy; SCD, sudden cardiac death; D, deceased; U, unknown. (C) Sequence chromatogram demonstrating single nucleotide insertion (red box) on mutant (MT) allele compared to wildtype (WT). The insertion alters amino acid sequence (in red) after codon 117 and predicts a premature stop codon. (D) Schematic of lamin A/C protein. Alternative splicing results in 572 and 664 amino acid lamin C and lamin A proteins. *, K117fs mutation in the α-helical rod domain (in blue).
Figure 2
Figure 2. Expression of Lamin A/C in cultured lymphocytes
Variable expression levels of lamin A/C protein (A) and mRNA (B) are found in affected members (III-1, III-3, and III-8) compared to controls (CTL1, CTL2) by Western blotting with lamin A/C antibody and real time quantitative PCR (RT-qPCR). Normalization to GAPDH for RT-qPCR and α-tubulin for Western blotting was performed. (C) Immunofluorescence staining of LMNA in lymphocytes from controls showed staining at nuclear envelope, whereas in affected member (III-1) there was almost no detectable nuclear envelope staining at the same level of exposure. (D) Variable quantities of lamin A/C mutant RNA were found in lymphocytes of III-1, III-3 and III-8 by RT-qPCR. Expression of mutant RNA was normalized to 1 in control sample.
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References

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